Canonical Allele Identifier: CA496227829

Gene: COG4

Linked Data

• gnomAD v4: 16-70481464-C-T
• MyVariant Identifiers: chr16:g.70515367C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481464C>T , CM000678.2:g.70481464C>T	GRCh38
NC_000016.9:g.70515367C>T , CM000678.1:g.70515367C>T	GRCh37
NC_000016.8:g.69072868C>T	NCBI36
NG_027529.1:g.47091G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2206G>A	ENSP00000461912.2:n.*2206G>A
ENST00000703106.1:c.2175G>A	ENSP00000515173.1:n.2175G>A
ENST00000703107.1:c.*2059G>A	ENSP00000515174.1:n.*2059G>A
ENST00000703108.1:c.*578G>A	ENSP00000515175.1:n.*578G>A
ENST00000703109.1:c.2163G>A	ENSP00000515176.1:p.Lys721=
ENST00000703110.1:c.*1632G>A	ENSP00000515177.1:n.*1632G>A
ENST00000703111.1:n.2413G>A
ENST00000703112.1:n.3074G>A
ENST00000703113.1:c.*1543G>A	ENSP00000515178.1:n.*1543G>A
ENST00000703114.1:c.*779G>A	ENSP00000515179.1:n.*779G>A
ENST00000703115.1:c.1243G>A	ENSP00000515180.1:n.1243G>A
ENST00000323786.10:c.2130G>A MANE Select	ENSP00000315775.5:p.Lys710=
ENST00000564415.6:c.*1910G>A	ENSP00000456653.2:n.*1910G>A
ENST00000674443.1:c.2055G>A	ENSP00000501405.1:p.Lys685=
ENST00000323786.9:c.2130G>A	ENSP00000315775.5:p.Lys710=
ENST00000393612.8:c.2067G>A	ENSP00000377236.5:p.Lys689=
ENST00000482252.5:c.2277G>A	ENSP00000432802.1:n.2277G>A
ENST00000526700.5:n.1306G>A
ENST00000530314.5:n.2809G>A
ENST00000564415.5:c.*1910G>A	ENSP00000456653.1:n.*1910G>A
ENST00000565715.1:c.192G>A	ENSP00000455693.1:p.Lys64=
NM_001195139.1:c.2067G>A	NP_001182068.1:p.Lys689=
NM_015386.2:c.2130G>A	NP_056201.2:p.Lys710=
XM_011522981.1:c.1704G>A	XP_011521283.1:p.Lys568=
XM_011522981.3:c.1704G>A	XP_011521283.1:p.Lys568=
XM_024450224.1:c.1149G>A	XP_024305992.1:p.Lys383=
XR_001751889.1:n.2013G>A
XR_933266.2:n.2076G>A
NM_015386.3:c.2130G>A MANE Select	NP_056201.2:p.Lys710=
NM_001195139.2:c.2055G>A	NP_001182068.2:p.Lys685=
NM_001365426.1:c.1704G>A	NP_001352355.1:p.Lys568=
NR_158212.1:n.2089G>A